Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA

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Full name:
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Quality coverage:
c.854A>C (p.Glu285Ala) and c.693C>A (p.Tyr231*) in ASPA; c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser) in HEXA; c.2204+6T>C in ELP1 (IKBKAP); c.456+4A>T in FANCC
Created:
05 Jul 2019 - 14:33
Changed:
21 Aug 2019 - 15:41
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ASPA
ELP1
FANCC
HEXA